Physical Medicine and Rehabilitation for Charcot-Marie-Tooth Disease Treatment & Management

  • Author: Divakara Kedlaya, MBBS; Chief Editor: Robert H Meier, III, MD  more...
Updated: Jan 07, 2016

Rehabilitation Program

Physical Therapy

Daily heel-cord stretching exercises are desirable to prevent Achilles tendon shortening. Special shoes with good ankle support may be needed. Physical therapy can assist with ambulation and provide necessary evaluation and training with orthoses, such as an ankle-foot orthosis (AFO).[58]

Patients often require an AFO to correct foot drop and to aid walking.[59] It is important to address the biomechanical needs of a CMT patient, since there may be bilateral strength differences due to progression of the disease. Optimizing the mechanical characteristics of the AFO to patient needs can be challenging. One strategy is to design AFOs of varying stiffness and allow patients to experience range energy storage and release characteristics prior to selecting the stiffness they prefer.

Patients with CMT discard AFOs because they highlight their disability, are not essential for their limited daily walking, and are uncomfortable. Prescription of AFOs should be accompanied with psychological support, noting that research of more comfortable and cosmetically acceptable solutions for the problem of footdrop in CMT is ongoing.[60]

Patients with CMT who regularly wore AFOs were more severely affected, had a slower maximum walking speed, higher energy cost of walking, and worse perceived walking ability.[61]

Custom carbon-fiber composite AFOs have been reported to improve gait of CMT patients[62] AFO prescription appears relevant for improving balance and gait performance in CMT patients, particularly when the model adequately compensates for specific muscle deficits. Custom polypropylene AFOs have shown to improve walking speed and gait parameters in patients with CMT.[63, 64]

Transcutaneous electrical nerve stimulator (TENS) units can be used to improve muscle functions in patients with CMT.[65]

Some patients require the use of forearm crutches or a cane for improved gait stability, but fewer than 5% of patients need wheelchairs. Advise patients with Charcot-Marie-Tooth disease (CMT) about weight management, because obesity makes ambulation more difficult. Encourage exercise within each individual patient's capability.[66] Most patients with CMT usually remain physically active.

A literature review by Sman et al suggested that even though studies have shown exercise-related strength and function changes in patients with CMT, these results should be considered cautiously since few such studies are available and their quality of evidence is only moderate.[67]

Occupational Therapy

An occupational therapist may recommend the use of adaptive equipment for activities of daily living (ADL) and self-care. Fitting of a proper orthosis and keeping the wrist and hand in functional position may be required. Vocational and avocational training regarding the importance of career and employment implications may be needed because of persistent weakness of the hands and/or feet.[23, 24]


Medical Issues/Complications

In Charcot-Marie-Tooth disease (CMT), no treatment currently exists to reverse or slow the natural disease process for the underlying disorder. Nothing can correct the abnormal myelin, prevent the myelin's degeneration, or prevent axonal degeneration.

Stem-cell and gene-transfer therapies are the most promising forms of treatment for the cure of CMT.[68] Some promising results have been reported for antiprogesterone therapy and ascorbic acid treatment for CMT-1A in animal CMT-1A models. Progesterone-receptor antagonists have reduced PMP-22 overexpression and clinical severity in a CMT-1A rat model. Furthermore, ascorbic acid treatment reduced premature death and demyelination in a CMT-1A mouse model. (A literature review by Gess et al, however, suggested that ascorbic acid does not improve outcomes in adults with CMT-1A, as measured by the neuropathy score at 12 months.[69] ) There is also the prospect of developing drugs to reduce the effects of PMP-22 overexpression in gene duplications by down-regulation via the promoter. Improved understanding of the genetics and biochemistry of the disorder offers hope for an eventual treatment.

Charcot-Marie-Tooth disease increases the risk for complications during delivery, which is linked to a higher occurrence of emergency interventions during birth.[70]

Patients often are evaluated and managed symptomatically by a team that includes a physiatrist, a neurologist, an orthopedic surgeon, and physical and occupational therapists.


Surgical Intervention

Orthopedic surgery may be required to correct severe pes cavus deformities, scoliosis, and other joint deformities.[16, 71, 72]



Consult a specialist in neurogenetics to order specific genetic tests and proper genetic counseling.

Contributor Information and Disclosures

Divakara Kedlaya, MBBS Clinical Associate Professor, Department of Physical Medicine and Rehabilitation, Loma Linda University School of Medicine; Medical Director, Physical Medicine and Rehabilitation and Pain Management, St Mary Corwin Medical Center

Divakara Kedlaya, MBBS is a member of the following medical societies: American Academy of Physical Medicine and Rehabilitation, Colorado Medical Society, American Association of Neuromuscular and Electrodiagnostic Medicine

Disclosure: Nothing to disclose.

Specialty Editor Board

Francisco Talavera, PharmD, PhD Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Received salary from Medscape for employment. for: Medscape.

Michael T Andary, MD, MS Professor, Residency Program Director, Department of Physical Medicine and Rehabilitation, Michigan State University College of Osteopathic Medicine

Michael T Andary, MD, MS is a member of the following medical societies: American Academy of Physical Medicine and Rehabilitation, American Association of Neuromuscular and Electrodiagnostic Medicine, American Medical Association, Association of Academic Physiatrists

Disclosure: Received honoraria from Allergan for speaking and teaching.

Chief Editor

Robert H Meier, III, MD Director, Amputee Services of America; Active Medical Staff, Presbyterian/St Luke’s Hospital, Spalding Rehabilitation Hospital, Select Specialty Hospital; Consulting Staff, Kindred Hospital

Robert H Meier, III, MD is a member of the following medical societies: American Academy of Physical Medicine and Rehabilitation, Association of Academic Physiatrists

Disclosure: Nothing to disclose.

Additional Contributors

Milton J Klein, DO, MBA Consulting Physiatrist, Heritage Valley Health System-Sewickley Hospital and Ohio Valley General Hospital

Milton J Klein, DO, MBA is a member of the following medical societies: American Academy of Disability Evaluating Physicians, American Academy of Medical Acupuncture, American Academy of Osteopathy, American Academy of Physical Medicine and Rehabilitation, American Medical Association, American Osteopathic Association, American Osteopathic College of Physical Medicine and Rehabilitation, American Pain Society, Pennsylvania Medical Society

Disclosure: Nothing to disclose.

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Foot deformities in a 16-year-old boy with Charcot-Marie-Tooth disease type 1A.
Charcot-Marie-Tooth disease type 1A DNA test showing duplication in the short arm of chromosome 17 (A) compared with normal (B).
Nerve conduction study showing decreased nerve conduction velocity in the median nerve in an 18-year-old woman with Charcot-Marie-Tooth disease type 1.
Foot of 29-year-old with advanced Charcot-Marie-Tooth disease type 1.
Hands of 29-year-old with advanced Charcot-Marie-Tooth disease type 1.
Right ulnar motor nerve conduction study in a 29-year-old patient with advanced Charcot-Marie-Tooth disease type 1.
Left ulnar motor nerve conduction study in 29-year-old patient with advanced Charcot-Marie-Tooth disease type 1.
Table. Charcot-Marie-Tooth Disorders: Genetic and Clinical Feature Comparison
CMT Type Chromosome; Inheritance Pattern Age of Onset Clinical Features Average NCVs§
CMT-1A (PMP-22 dupl.) 17p11.2; AD* First decade Distal weakness 15-20 m/s
CMT-1B (P0 -MPZ)** 1q23.3; AD First decade Distal weakness < 20 m/s
CMT-1C (non-A, non-B) (LITAF) 16p13.13;AD Second decade Distal weakness 26-42 m/s
CMT-1D (EGR-2)# 10q21.3; AD First decade Distal weakness 15-20 m/s
CMT-1E (PMP22) 17p11.2; AD First decade Distal weakness, deafness 15-20 m/s
CMT-1F (NEFL) 8p21.2; AD First decade Distal weakness 15-20 m/s
CMT-X (connexin-32)[31, 32, 33, 34] Xq13; XD Second decade Distal weakness 25-40 m/s
CMT-2A 1p36; AD 10 y Distal weakness >38 m/s
CMT-2B 3q21; AD Second decade Distal weakness,

sensory loss, skin ulcers

Axon loss; Normal
CMT-2C 12q23-q24, AD First decade Vocal cord, diaphragm, and

distal weakness

>50 m/s
CMT-2D 7p14; AD 16-30 y Distal weakness, upper limb predominantly Axon loss; N††
CMT-2E 8p21; AD 10-30 y Distal weakness, lower limb predominantly Axon loss; N
CMT-2F 7q11-q21; AD 15-25 y Distal weakness Axon loss; N
CMT-2G 12q12-q13; AD 9-76 y Distal weakness Axon loss; N
CMT-2H 8q21; AD 15-25 y Distal weakness, pyramidal features Axon loss; N
CMT-2I 1q23; AD 47-60 y Distal weakness Axon loss; N
CMT-2J 1q23; AD 40-50 y Distal weakness, hearing loss Axon loss; N
CMT-2K 8q13-q21; AD < 4 y Distal weakness Axon loss; N
CMT-2L 12q24; AD 15-25 y Distal weakness Axon loss; N
CMT–R-Ax (Ouvrier) AR First decade Distal weakness Axon loss; N
CMT–R-Ax (Moroccan) 1q21; AR Second decade Distal weakness Axon loss; N
Cowchock syndrome Xq24-q26 First decade Distal weakness, deafness, mental retardation Axon loss; N
HNPP|| (PMP-22 deletion)[35]

or tomaculous neuropathy

17p11; AD All ages Episodic weakness and numbness Conduction Blocks
Dejerine-Sottas-syndrome (DSS) or HMSN-3[36] P0; AR

PMP-22; AD

8q23; AD

2 y Severe weakness < 10 m/s

hypomyelination (CH)

P0, EGR-2 or PMP-22


Birth Severe weakness < 10 m/s
CMT-4A[37] 8q13; AR Childhood Distal weakness Slow

(myotubularin- related

protein 2)[38, 39]

11q23; AR 2-4 y Distal and proximal


CMT-4C 5q23; AR 5-15 y Delayed walking 14-32 m/s
CMT-4D (Lom)

(N-myc downstream-

regulated gene 1)

8q24; AR 1-10 y Distal muscle wasting, foot and hand deformities 10-20 m/s
CMT-4E (EGR-2) 10q21; AR Birth Infant hypotonia 9-20 m/s
CMT-4G 10q23.2; AR 8-16 years Distal weakness 9-20 m/s
CMT-4H 12p11.21-q13.11; AR 0-2 years Delayed walking 9-20 m/s
CMT-4F 19q13; AR 1-3 y Motor delay Absent
*Autosomal dominant

†Autosomal recessive

‡X-linked dominant

§Nerve conduction velocities

||Hereditary neuropathy with liability to pressure palsy

¶Peripheral myelin protein

#Early growth response

**Myelin protein zero


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